HNRNPA2B1 myopathy presenting in a family with an early onset oculopharyngeal muscular dystrophy-like phenotype.

Carroll, Liam S; Ennis, Sarah; Foulds, Nicola; Hammans, Simon R

Carroll, Liam S; Ennis, Sarah; Foulds, Nicola; Hammans, Simon R.

Affiliation

Carroll LS; Wessex Neurological Centre, University Hospital Southampton NHS Foundation Trust. Southampton, SO16 6YD, UK. Electronic address: liamcarroll@nhs.net.
Ennis S; University of Southampton, Duthie Building (MP 808), Southampton General Hospital, Tremona Road Shirley, Southampton, SO16 6YD, UK.
Foulds N; Wessex Clinical Genetics Services, University Hospital Southampton NHS Foundation Trust, Southampton, SO16 6YD, UK.
Hammans SR; Wessex Neurological Centre, University Hospital Southampton NHS Foundation Trust. Southampton, SO16 6YD, UK.

Neuromuscul Disord ; 34: 27-31, 2024 Jan.

Article de En | MEDLINE | ID: mdl-38052666

Sujet(s)
Mots clés

Myopathy; Oculpharyngeal muscular dystrophy, Chronic progressive external ophthalmoplegia, Limb girdle muscular dystrophy

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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Ophtalmoplégie externe progressive / Dystrophie musculaire oculopharyngée / Maladies musculaires Limites: Adolescent / Adult / Child / Humans Langue: En Journal: Neuromuscul Disord Sujet du journal: NEUROLOGIA Année: 2024 Type de document: Article

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